Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Hall CL
  • Akhtar MM
  • Sabater-Molina M
  • Futema M
  • Asimaki A
  • Protonotarios A
  • Dalageorgou C
  • Pittman AM
  • Suarez MP
  • Aguilera B
  • Hernández JP
  • Pastor F
  • Syrris P
  • McKenna WJ

Grupos

Abstract

Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the disease mechanism at a molecular level.

Datos de la publicación

ISSN/ISSNe:
0167-5273, 1874-1754

International Journal of Cardiology  ELSEVIER IRELAND LTD

Tipo:
Article
Páginas:
101-108
PubMed:
31627847
Factor de Impacto:
1,406 SCImago
Cuartil:
Q1 SCImago

Citas Recibidas en Web of Science: 60

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Keywords

  • ARVC, Arrhythmogenic cardiomyopathy, Filamin C variants, Immunohistochemistry, Late gadolinium enhancement

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